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Surfactant protein-D and unfavorable outcome in interstitial lung diseases

✍ Scribed by Norihiro Kikuchi; Hiroaki Satoh; Takahide Kodama; Morio Ohtsuka


Book ID
116347293
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
90 KB
Volume
374
Category
Article
ISSN
0009-8981

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NKX2-1 (NK2 homeobox 1) is a critical regulator of transcription for the surfactant protein (SP)-B and -C genes (SFTPB and SFTPC, respectively). We identified and functionally characterized two new de novo NKX2-1 mutations c.493C>T (p.R165W) and c.786\_787del2 (p.L263fs) in infants with closely simi